Header

UZH-Logo

Maintenance Infos

Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred


Sveinsson, Olafur; Udd, Bjarne; Svenningsson, Per; Gassner, Christoph; Engström, Charlotte; Laffita-Mesa, José Miguel; Solders, Göran; Hertegård, Stellan; Savitcheva, Irina; Jung, Hans H; Tolnay, Markus; Frey, Beat M; Paucar, Martin (2018). Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred. Parkinsonism & Related Disorders:Epub ahead of print.

Abstract

McLeod syndrome (MLS) is a rare adult-onset, progressive and incurable X-linked multisystemic disorder characterized by chorea, cognitive decline, seizures, polyneuropathy, myopathy and dilated cardiomyopathy with subsequent heart failure and increased risk for arrhythmia [1]. Variable psychiatric symptoms are common; the presence of acanthocytes on blood smears, elevated CK levels and striatal atrophy are other features. MLS is caused by mutation in the XK gene which encodes a membrane transport protein containing the Kx erythrocyte antigen [1]. So far, less than 200 MLS cases have been reported. In general, women harboring XK mutations rarely manifest symptoms. In addition, myoclonus has not been described in association with MLS and functional imaging studies are scarce.

Abstract

McLeod syndrome (MLS) is a rare adult-onset, progressive and incurable X-linked multisystemic disorder characterized by chorea, cognitive decline, seizures, polyneuropathy, myopathy and dilated cardiomyopathy with subsequent heart failure and increased risk for arrhythmia [1]. Variable psychiatric symptoms are common; the presence of acanthocytes on blood smears, elevated CK levels and striatal atrophy are other features. MLS is caused by mutation in the XK gene which encodes a membrane transport protein containing the Kx erythrocyte antigen [1]. So far, less than 200 MLS cases have been reported. In general, women harboring XK mutations rarely manifest symptoms. In addition, myoclonus has not been described in association with MLS and functional imaging studies are scarce.

Statistics

Citations

Dimensions.ai Metrics

Altmetrics

Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:26 September 2018
Deposited On:23 Nov 2018 06:57
Last Modified:23 Nov 2018 06:59
Publisher:Elsevier
ISSN:1353-8020
OA Status:Closed
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1016/j.parkreldis.2018.09.014
PubMed ID:30305234

Download

Full text not available from this repository.
View at publisher

Get full-text in a library